[Genetically determined familial male limited precocious puberty].
Familial male-limited precocious puberty (FMPP) is a genetically determined, gonadotropin-independent disorder manifested by the sexual maturation at an early childhood. Low levels of blood gonadotropins, accompanied by a high testosterone levels, may suggest stimulation of androgen synthesis. The reports on the association of a constitutive activation of protein G-coupled receptors and pathogenesis of some clinical conditions have prompted searches for an abnormal structure of the LH/hCG receptor in the affected individuals. Point mutations, located mainly in the sixth transmembrane loop have been demonstrated to be responsible for the constitutive activation of the receptor and the cAMP-mediated stimulation of androgen formation in the Leydig cells.
Ignacak
M
M
Katedry i Zakładu Chemii Fizjologicznej AM, Połoznictwa AM im. K. Marcinkowskiego w Poznaniu.
Warenik-Szymankiewicz
A
A
Trzeciak
W H
WH
D001483:Base Sequence; D006062:Gonadotropins / Q000097:blood; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D017354:Point Mutation; D011629:Puberty, Precocious / Q000235:genetics*; D011974:Receptors, LH / Q000235:genetics; D013739:Testosterone / Q000097:blood
D006062:Gonadotropins; D011974:Receptors, LH; D013739:Testosterone
Genetycznie uwarunkowane rodzinne przedwczesne dojrzewanie płciowe meskie.